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Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Wray, S; Self, M; NINDS Parkinson's Disease iPSC Consortium, ; NINDS Huntington's Disease iPSC Consortium, ; NINDS ALS iPSC Consortium, ; Lewis, PA; Taanman, JW; ... Hardy, J; + view all (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLOS One , 7 (8) , Article e43099. 10.1371/journal.pone.0043099. Green open access


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Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.

Type: Article
Title: Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1371/journal.pone.0043099
Publisher version: http://dx.doi.org/10.1371/journal.pone.0043099
Language: English
Additional information: This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication. This work was supported by the following grants and funding agencies: Alzheimer's Research UK (SW and JH), The Alzheimer's Society (MNR), Parkinson's UK (PAL and JH), the Medical Research Council, the National Institute of Neurological Disorders and Stroke (National Institute of Neurological Disorders and Stroke/National Institutes of Health grants NS38377 [TD], NS060113 [LNC], NS036630 [KSM], NS050487 [LNC]), GO grants RC2NS069395, RC2NS069422, RC2 NS070276, Mayo Clinic Morris K. Udall Center grants P50NS072187 and P50 NS072187-01S2 (ZKW, RJU, OAR), Columbia Udall grant P50NS38370 (SP), MDSCF grant 2007-MSCRFI-0420-00 (TD), P2ALS (JDR), The Parkinson's Disease Foundation (LNC, SP, KSM), The Swedish Parkinson Academy (AP and CN) and the Michael J. Fox Foundation (JH, KSM, LNC). This work was partly undertaken at University College London Hospitals/University College London (UCL), which receives a proportion of funding from the Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme. This work was also supported in part by the Wellcome Trust/Medical Research Council (MRC) Joint Call in Neurodegeneration award (WT089698) to the UK Parkinson's Disease Consortium, whose members are from the UCL Institute of Neurology, the University of Sheffield, and the MRC Protein Phosphorylation Unit at the University of Dundee. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Keywords: Access to Information, Biopsy, Cell Differentiation, Cell Line, Cell Proliferation, Databases, Factual, Fibroblasts, Humans, Immunohistochemistry, Induced Pluripotent Stem Cells, Models, Genetic, Mutation, Nervous System Diseases, Tissue Banks
URI: http://discovery.ucl.ac.uk/id/eprint/1366046
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